Linked Data
dbSNP Id:
rs750041313
ExAC:
8:87683295 T / C
gnomAD v2:
8-87683295-T-C
gnomAD v4:
8-86671067-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671067T>C , CM000670.2:g.86671067T>C | GRCh38 |
| NC_000008.10:g.87683295T>C , CM000670.1:g.87683295T>C | GRCh37 |
| NC_000008.9:g.87752411T>C | NCBI36 |
| NG_016980.1:g.77609A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.370A>G MANE Select | ENSP00000316605.5:p.Ile124Val | |
| ENST00000680314.1:n.131A>G | ||
| ENST00000681746.1:c.370A>G | ENSP00000505959.1:p.Ile124Val | |
| ENST00000320005.5:c.370A>G | ENSP00000316605.5:p.Ile124Val | |
| NM_019098.4:c.370A>G | NP_061971.3:p.Ile124Val | |
| XM_011517138.1:c.-45A>G | XP_011515440.1:n.-45A>G | |
| XM_011517138.2:c.-45A>G | XP_011515440.1:n.-45A>G | |
| NM_019098.5:c.370A>G MANE Select | NP_061971.3:p.Ile124Val |